A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

Highlights • Generalized epilepsy with tremor phenotype ss a clinical marker of 6q22.1 microdeletion. • Deep brain stimulation may be applicable choince for intractable myoclonic tremor. • Over activation of basal ganglia may be related to this patient's symptoms.
We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed.